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CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia.

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作者: Kelly L,Williams [1] ; Simon,Topp [2] ; Shu,Yang [3] ; Bradley,Smith [4] ; Jennifer A,Fifita [1] ; Sadaf T,Warraich [2] ; Katharine Y,Zhang [4] ; Natalie,Farrawell [1] ; Caroline,Vance [2] ; Xun,Hu [1] ; Alessandra,Chesi [1] ; Claire S,Leblond [5] ; Albert,Lee [4] ; Stephanie L,Rayner [4] ; Vinod,Sundaramoorthy [6] ; Carol,Dobson-Stone [7] ; Mark P,Molloy [8] ; Marka,van Blitterswijk [1] ; Dennis W,Dickson [9] ; Ronald C,Petersen [1] ; Neill R,Graff-Radford [1] ; Bradley F,Boeve [10] ; Melissa E,Murray [11] ; Cyril,Pottier [12] ; Emily,Don [1] ; Claire,Winnick [9] ; Emily P,McCann [13] ; Alison,Hogan [13] ; Hussein,Daoud [14] ; Annie,Levert [15] ; Patrick A,Dion [14] ; Jun,Mitsui [13] ; Hiroyuki,Ishiura [13] ; Yuji,Takahashi [1] ; Jun,Goto [1] ; Jason,Kost [1] ; Cinzia,Gellera [1] ; Athina Soragia,Gkazi [7] ; Jack,Miller [8] ; Joanne,Stockton [7] ; William S,Brooks [8] ; Karyn,Boundy [7] ; Meraida,Polak [8] ; José Luis,Muñoz-Blanco [16] ; Jesús,Esteban-Pérez [16] ; Alberto,Rábano [16] ; Orla,Hardiman [16] ; Karen E,Morrison [17] ; Nicola,Ticozzi [18] ; Vincenzo,Silani [19] ; Jacqueline,de Belleroche [4] ; Jonathan D,Glass [4] ; John B J,Kwok [20] ; Gilles J,Guillemin [11] ; Roger S,Chung [21] ; Shoji,Tsuji [22] ; Robert H,Brown [23] ; Alberto,García-Redondo [24] ; Rosa,Rademakers [25] ; John E,Landers [26] ; Aaron D,Gitler [27] ; Guy A,Rouleau [20] ; Nicholas J,Cole [28] ; Justin J,Yerbury [29] ; Julie D,Atkin [30] ; Christopher E,Shaw [31] ; Garth A,Nicholson [30] ; Ian P,Blair [31]
作者单位: Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales 2109, Australia. [1] Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, New South Wales 2139, Australia. [2] Sydney Medical School, University of Sydney, Sydney, New South Wales 2006, Australia. [3] Medical Research Council Centre for Neurodegeneration Research, Department of Clinical Neuroscience, Institute of Psychiatry, King's College London, London SE5 8AF, UK. [4] Illawarra Health and Medical Research Institute, School of Biological Sciences, University of Wollongong, Wollongong, New South Wales 2522, Australia. [5] Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA. [6] Montreal Neurological Institute and Hospital, Department of Neurology and Neurosurgery, McGill University, Montreal, Québec, Canada H3A 2B4. [7] Pathology and Cellular Biology Department, Montreal University, Montreal, QC H3T 1J4 Québec, Canada. [8] Australian Proteome Analysis Facility, Macquarie University, Sydney, New South Wales 2109, Australia. [9] Department of Biochemistry, La Trobe University, Melbourne, Victoria 3086, Australia. [10] Neuroscience Research Australia, Randwick, Sydney, New South Wales 2031, Australia. [11] School of Medical Sciences, University of New South Wales, Kensington, Sydney, New South Wales 2052, Australia. [12] Department of Neuroscience, Mayo Clinic Florida, Jacksonville, Florida 32224, USA. [13] Department of Neurology, Mayo Clinic Rochester, Rochester, Minneapolis 55905, USA. [14] Department of Neurology, Mayo Clinic Florida, Jacksonville, Florida, 32224, USA. [15] Medical Genome Center, The University of Tokyo Hospital, The University of Tokyo, Tokyo 113-8655, Japan. [16] Worcester Polytechnic Institute, Worcester, Massachusetts 01609, USA. [17] Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts 01605, USA. [18] Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', 20133 Milan, Italy. [19] School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Birmingham B15 2TT, UK. [20] The Queen Elizabeth Hospital, Woodville South, South Australia 5011, Australia. [21] Department of Neurology, Emory University, Atlanta, Georgia 30322, USA. [22] Unidad de ELA, Instituto de Investigación Hospital Gregorio Marañón de Madrid, Sermas 28007, Spain. [23] Unidad de ELA, Instituto de Investigación Hospital 12 de Octubre de Madrid, Sermas 28041, Spain. [24] Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER U-723), Madrid 28029, Spain. [25] Banco de Tejidos, Centro Alzheimer-Fundación Reina Sofia, Fundación CIEN, Madrid 28071, Spain. [26] Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Dublin 2, Republic of Ireland. [27] Queen Elizabeth Hospital, University Hospitals Birmingham NHS Foundation Trust, Birmingham B15 2TH, UK. [28] Faculty of Medicine, University of Southampton, Southampton SO17 1BJ, UK. [29] Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, 20149 Milan, Italy. [30] Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center-Università degli Studi di Milano, 20122 Milan, Italy. [31] Neurogenetics Group, Division of Brain Sciences, Imperial College London, Hammersmith Hospital Campus, London W12 0NN, UK. [32] Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo 113-8655, Japan. [33] Molecular Medicine Laboratory, Concord Hospital, New South Wales 2139, Australia. [34]
DOI 10.1038/ncomms11253
PMID 27080313
发布时间 2024-03-20
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